Medical Xpress news tagged with:genetic syndromeshttp://medicalxpress.com/
en-usMedical Xpress internet news portal provides the latest news on science including: Physics, Nanotechnology, Life Sciences, Space Science, Earth Science, Environment, Health and Medicine.Uncombable hair gene discoveredSome children suffer from completely tangled hair, which cannot be combed at all. In German, the phenomenon bears the apt name "uncombable hair syndrome" or even "Struwwelpeter syndrome". Researchers at the Universities of Bonn and Toulouse have identified mutations in three genes that are responsible for this. Scientists from a total of eight countries were involved in the work. The results were published today in the American Journal of Human Genetics.http://medicalxpress.com/news/2016-11-uncombable-hair-gene.html
GeneticsThu, 17 Nov 2016 09:04:50 ESTnews398595870Genetic counseling helps determine risk for hereditary cancersKnowing your family history is a key part in understanding your risk factors for certain diseases. While you're gathering with family this Thanksgiving, get to know more about your family's health history and how it could impact your personal health.http://medicalxpress.com/news/2016-11-genetic-hereditary-cancers.html
CancerTue, 15 Nov 2016 07:00:02 ESTnews398414506Heart defects identified in progeria patients that increase the risk of arrhythmias and premature deathResearchers at the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), working in collaboration with colleagues at other centers in Spain and abroad, have identified defects in the hearts of progeria patients that appear to be related to an elevated risk of arrhythmias and premature death. The study, published the Proceedings of the National Academy of Sciences (PNAS), shows that these risks are linked to anomalies in the transmission of electrical signals in the hearts of individuals with Hutchinson-Gilford progeria syndrome (HGPS), also known as progeria. Similar findings were observed in a mouse model of the disease The findings of this study open the way to research into new treatments to correct these characteristic defects. The study could also provide clues about the mechanisms involved in the development of cardiovascular disease during normal aging.http://medicalxpress.com/news/2016-11-heart-defects-progeria-patients-arrhythmias.html
Medical researchThu, 03 Nov 2016 05:32:05 ESTnews397369914Sudden cardiac death of teen reminds physicians of precision medicineThe sudden death of a 13-year-old boy resulted in more than 20 relatives to be incorrectly diagnosed as having a potentially lethal heart rhythm condition. This erroneous diagnosis occurred as a result of inappropriate use of genetic testing and incorrect interpretation of genetic test results, according to Mayo Clinic research published in Mayo Clinic Proceedings.http://medicalxpress.com/news/2016-10-sudden-cardiac-death-teen-physicians.html
CardiologyMon, 31 Oct 2016 04:44:26 ESTnews397107801Scientists uncover genetic explanation for frustrating syndromeScientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms, including dizziness and lightheadedness, skin flushing and itching, gastrointestinal complaints, chronic pain, and bone and joint problems. Some people who experience these diverse symptoms have elevated levels of tryptase—a protein in the blood often associated with allergic reactions. Multiple copies of the alpha tryptase gene drive these tryptase elevations and may contribute to the symptoms, according to a new study led by investigators at NIH's National Institute of Allergy and Infectious Diseases (NIAID).http://medicalxpress.com/news/2016-10-scientists-uncover-genetic-explanation-frustrating.html
GeneticsMon, 17 Oct 2016 11:36:55 ESTnews395922933Study implicates glial cells in fragile X syndromeResearch on fragile X syndrome, the most common inherited cause of mental retardation, has focused mostly on how the genetic defect alters the functioning of neurons in the brain. A new study focusing on a different type of brain cell, the glial cells known as astrocytes, indicates they also are impaired by the genetic defect and are involved in the symptoms of the disease.http://medicalxpress.com/news/2016-10-implicates-glial-cells-fragile-syndrome.html
Psychology & PsychiatryTue, 04 Oct 2016 07:45:16 ESTnews394785907Study shows cell-free DNA sequencing is more accurate for diagnosing myelodysplastic syndromeUsing next-generation sequencing (NGS) methods to analyze cell-free DNA in the blood of patients with myelodysplastic syndrome (MDS) yields more accurate results than the current standard approach of Sanger sequencing. This finding, and the greater likelihood of detecting the genetic abnormality responsible for the disorder by analyzing cell-free DNA versus DNA extracted from a patient's blood cells, is reported in a new study published in Genetic Testing and Molecular Biomarkers.http://medicalxpress.com/news/2016-08-cell-free-dna-sequencing-accurate-myelodysplastic.html
GeneticsTue, 02 Aug 2016 12:44:32 ESTnews389360663Discovery yields answers for family with thoracic aortic aneurysm and dissectionA new finding by clinicians and geneticists may solve a medical mystery that one family has faced for the last 15 years and help identify the cause of a rare aortic disease in other patients as well. Through genetic analysis of a family with a history of thoracic aortic aneurysm and dissection (TAAD), investigators at Brigham and Women's Hospital and Washington University School of Medicine in St. Louis have identified mutations in the LOX gene, a gene associated with the integrity of the arterial wall, in human subjects for the first time. Strong evidence from a mouse model of the disease further confirms these mutations as a cause of aortic disease, and, together, the results point toward possible strategies for managing this inherited form of TAAD. The new findings are published online this week in The Proceedings of the National Academy of Sciences.http://medicalxpress.com/news/2016-07-discovery-yields-family-thoracic-aortic.html
GeneticsMon, 18 Jul 2016 15:37:10 ESTnews388075020New insights uncovered into Prader-Willi syndromeA study published in the journal Human Molecular Genetics by researchers at Children's Hospital Los Angeles (CHLA) provides novel insights into the brain mechanisms underlying the insatiable hunger and subsequent obesity in patients with Prader-Willi syndrome.http://medicalxpress.com/news/2016-06-insights-uncovered-prader-willi-syndrome.html
GeneticsTue, 14 Jun 2016 13:11:12 ESTnews385128658Social media poses threat to people with intellectual disabilitiesPeople with intellectual disabilities are more susceptible to exploitation and abuse, and the rise of the Internet only increases their vulnerability.http://medicalxpress.com/news/2016-05-social-media-poses-threat-people.html
Psychology & PsychiatryThu, 19 May 2016 10:56:58 ESTnews382874206Klinefelter's syndrome—being unable to produce testosterone has serious implications for menKlinefelter's syndrome is a genetic disorder that affects approximately one in 450 males. Each cell in the human body has 23 pairs of chromosomes. The sex chromosomes in a female are XX, and XY in men. Typically, men have 46 chromosomes with an arrangement of 46XY, while those with Klinefelter's syndrome have a 46XXY arrangement.http://medicalxpress.com/news/2016-05-klinefelter-syndromebeing-unable-testosterone-implications.html
Medical researchThu, 05 May 2016 08:10:01 ESTnews381653628NIH creates Atlas of Human Malformation Syndromes in Diverse PopulationsResearchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care providers can use the new atlas to diagnose diverse patients with inherited diseases by comparing physical traits (called phenotypes) and written descriptions of their symptoms with photos and descriptions of people with the same condition and ancestry. Previously, the only available diagnostic atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics of these diseases in patients from other parts of the world. The free electronic atlas was announced online in Genetics in Medicine.http://medicalxpress.com/news/2016-04-nih-atlas-human-malformation-syndromes.html
Diseases, Conditions, SyndromesFri, 29 Apr 2016 14:27:38 ESTnews381158844How diet influences our genesWhat we eat can directly affect the genetic programs that regulate cellular function. A new EU project, coordinated by an LMU researcher, will explore how the products of metabolism intervene in gene regulation.http://medicalxpress.com/news/2016-04-diet-genes.html
GeneticsWed, 27 Apr 2016 08:13:50 ESTnews380963613Study estimates number of births and terminations with Down syndrome in MassachusettsA multi-institutional research team has estimated for the first time the number of children born with Down syndrome each year in Massachusetts over the past century, along with the numbers of pregnancies of a child with Down syndrome lost to either termination or miscarriage. Their report receiving advance online publication in the journal Genetics in Medicine is a follow-up to a 2015 paper describing such estimates on a nationwide level.http://medicalxpress.com/news/2016-04-births-terminations-syndrome-massachusetts.html
GeneticsThu, 14 Apr 2016 12:28:24 ESTnews379855695Mouse model yields possible treatment for autism-like symptoms in rare diseaseAbout half of children born with Jacobsen syndrome, a rare inherited disease, experience social and behavioral issues consistent with autism spectrum disorders. Researchers at University of California, San Diego School of Medicine and collaborators developed a mouse model of the disease that also exhibits autism-like social behaviors and used it to unravel the molecular mechanism that connects the genetic defects inherited in Jacobsen syndrome to effects on brain function.http://medicalxpress.com/news/2016-03-mouse-yields-treatment-autism-like-symptoms.html
Autism spectrum disordersWed, 16 Mar 2016 06:00:01 ESTnews377326431Protein that limits the severity of genetic kidney disease foundResearchers from Kumamoto University, Japan have identified a protein that limits the severity of Alport syndrome, a type of genetic kidney disease. The finding can provide clues that point toward new therapeutic approaches for Alport syndrome.http://medicalxpress.com/news/2016-02-protein-limits-severity-genetic-kidney.html
Diseases, Conditions, SyndromesTue, 09 Feb 2016 10:27:23 ESTnews374236041Researchers scramble to fight 'brand new' Zika virusZika virus is spreading rapidly through the Americas leaving researchers scrambling to understand the very basics, including how to prevent, treat and diagnose the emerging mosquito-borne threat.http://medicalxpress.com/news/2016-01-scramble-brand-zika-virus.html
Diseases, Conditions, SyndromesFri, 29 Jan 2016 03:38:03 ESTnews373261076Polyhydramnios with normal U/S linked to adverse outcomes(HealthDay)—Polyhydramnios with normal prenatal detailed ultrasound examination is associated with increased risk for adverse outcomes, including fetal malformations, genetic syndromes, neurologic disorders, and developmental delay, according to a study published online Jan. 11 in Pediatrics.http://medicalxpress.com/news/2016-01-polyhydramnios-linked-adverse-outcomes.html
Obstetrics & gynaecologyMon, 11 Jan 2016 18:20:01 ESTnews371755897Zafgen reports second death in key drug studyZafgen Inc. on Wednesday reported a second patient death in an ongoing study of its potential treatment for a rare genetic disorder linked to obesity.http://medicalxpress.com/news/2015-12-zafgen-death-key-drug.html
MedicationsWed, 02 Dec 2015 08:51:51 ESTnews368268698International study uncovers mechanism behind Joubert syndromeThe results of an international study published in Nature Cell Biology have identified a gene (TMEM107) associated with Joubert syndrome, and crucially uncovered the mechanism by which it functions in cells, leading to a better understanding of the cause of this brain disorder.http://medicalxpress.com/news/2015-11-international-uncovers-mechanism-joubert-syndrome.html
Medical researchWed, 25 Nov 2015 07:21:44 ESTnews367658493Genome of Sezary syndrome points to potential treatment targetsA genomic analysis of 37 patients with Sézary syndrome, a rare form of T-cell lymphoma that affects the skin and causes large numbers of atypical T-lymphocytes (an immune system disease) to circulate, reveals mutations in genes that affect T-cell signaling and those that interfere with cell cycle checkpoints that govern cell division, said researchers from Baylor College of Medicine and The University of Texas MD Anderson Cancer Center in a report in the journal Nature Genetics.http://medicalxpress.com/news/2015-11-genome-sezary-syndrome-potential-treatment.html
GeneticsTue, 10 Nov 2015 05:48:18 ESTnews366356878Greater understanding of polycystic ovary syndromeA new genetic study of over 200,000 women reveals the underlying mechanisms of polycystic ovary syndrome, as well as potential interventions.http://medicalxpress.com/news/2015-09-greater-polycystic-ovary-syndrome.html
Obstetrics & gynaecologyTue, 29 Sep 2015 09:18:56 ESTnews362737127New hope for rare 'stone man' disease, where flesh turns to boneResearchers working with mice believe there's hope for patients with a rare genetic disorder that turns their muscle into bone, in essence immobilizing them in an extra skeleton.http://medicalxpress.com/news/2015-09-rare-stone-disease-flesh-bone.html
Medical researchWed, 02 Sep 2015 17:06:26 ESTnews360432367Disappearing Down syndrome, genetic counseling, and textbook coverageLast week, several people sent me a perspective piece by bioethicist Art Caplan in PLOS Biology, "Chloe's Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing." The concise and compelling article considers legislation to mandate that genetic counselors talk to their patients more about positive aspects of having a child with trisomy 21 Down syndrome.http://medicalxpress.com/news/2015-08-syndrome-genetic-textbook-coverage.html
Obstetrics & gynaecologyThu, 13 Aug 2015 09:30:05 ESTnews358673815Can genetics find a 'cure' for autism?We live in an age of genetics. Major genetic success stories such as breakthroughs in treating cystic fibrosis and breast cancer inspire hope that it can one day provide a cure for all ills. So when we hear that mental disorders are at least partially genetically determined, we may wonder what progress is being made.http://medicalxpress.com/news/2015-08-genetics-autism.html
Autism spectrum disordersMon, 10 Aug 2015 08:00:01 ESTnews358411608Risk of bowel cancer reduced by taking aspirin for Lynch syndrome patientsAn international study led by The University of Melbourne has confirmed that long-term regular taking of aspirin or ibuprofen reduces the risk of bowel cancer by more than half for people with the genetic mutation causing Lynch syndrome.http://medicalxpress.com/news/2015-06-bowel-cancer-aspirin-lynch-syndrome.html
CancerFri, 26 Jun 2015 07:07:29 ESTnews354521157Study looks at risk, family relatedness for Tourette syndrome, tic disordersThe risk for tic disorders, including Tourette syndrome and chronic tic disorders, increased with the degree of genetic relatedness in a study of families in Sweden, according to an article published online by JAMA Psychiatry.http://medicalxpress.com/news/2015-06-family-relatedness-tourette-syndrome-tic.html
Psychology & PsychiatryWed, 17 Jun 2015 11:00:03 ESTnews353750849Researchers shed new light on cause of Chronic Fatigue SyndromeNew research findings may shed new light on the potential cause of Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME).http://medicalxpress.com/news/2015-05-chronic-fatigue-syndrome.html
Diseases, Conditions, SyndromesMon, 11 May 2015 16:00:01 ESTnews350560982Genetic testing moves into world of employee healthYour employer may one day help determine if your genes are why your jeans have become too snug.http://medicalxpress.com/news/2015-04-genetic-world-employee-health.html
HealthTue, 28 Apr 2015 12:50:01 ESTnews349443656Discovery may open door for treating fragile X carriersFragile X syndrome, an inherited cause of autism and intellectual disability, can have consequences even for carriers of the disorder who don't have full-blown symptoms.http://medicalxpress.com/news/2015-04-discovery-door-fragile-carriers.html
NeuroscienceFri, 24 Apr 2015 15:04:15 ESTnews349106640